Incidental Mutation 'R5841:Mycbpap'
ID 450452
Institutional Source Beutler Lab
Gene Symbol Mycbpap
Ensembl Gene ENSMUSG00000039110
Gene Name MYCBP associated protein
Synonyms 4932408B01Rik, AMAP-1
MMRRC Submission 044061-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R5841 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 94392173-94412568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94396436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 135 (R135W)
Ref Sequence ENSEMBL: ENSMUSP00000047579 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040692] [ENSMUST00000093945]
AlphaFold Q5SUV2
Predicted Effect probably damaging
Transcript: ENSMUST00000040692
AA Change: R135W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047579
Gene: ENSMUSG00000039110
AA Change: R135W

DomainStartEndE-ValueType
Pfam:MYCBPAP 6 85 2.3e-19 PFAM
low complexity region 330 342 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093945
AA Change: R653W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: R653W

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
low complexity region 164 176 N/A INTRINSIC
Pfam:MYCBPAP 184 602 3.7e-144 PFAM
low complexity region 848 860 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151993
Meta Mutation Damage Score 0.1655 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A T 1: 75,150,994 (GRCm39) F565L possibly damaging Het
Abhd6 T A 14: 8,049,596 (GRCm38) V188D probably benign Het
Bbs12 T G 3: 37,373,670 (GRCm39) N39K probably benign Het
Bend5 A G 4: 111,290,667 (GRCm39) Y221C probably damaging Het
Brd8 A G 18: 34,738,576 (GRCm39) S683P probably damaging Het
Caskin1 A G 17: 24,715,183 (GRCm39) D79G probably damaging Het
Cdyl T C 13: 36,056,544 (GRCm39) L509P probably damaging Het
Cenpf G T 1: 189,389,641 (GRCm39) T1397N possibly damaging Het
Ckap5 T A 2: 91,431,027 (GRCm39) M1479K probably benign Het
Cpsf2 T C 12: 101,951,497 (GRCm39) S145P probably damaging Het
Cyp4a12a A T 4: 115,183,899 (GRCm39) H235L probably benign Het
Cyp7b1 A T 3: 18,151,670 (GRCm39) F181Y probably damaging Het
Dennd5b T C 6: 148,946,253 (GRCm39) T453A probably benign Het
Dlgap3 A G 4: 127,089,193 (GRCm39) D263G probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Dync2li1 G A 17: 84,940,990 (GRCm39) G69R probably damaging Het
Edc3 T C 9: 57,651,885 (GRCm39) V331A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ganc C T 2: 120,242,020 (GRCm39) T66I possibly damaging Het
Gm11595 C A 11: 99,663,143 (GRCm39) C179F unknown Het
Gnptg A G 17: 25,454,391 (GRCm39) S159P probably damaging Het
Gsdmc2 C T 15: 63,698,059 (GRCm39) V349I probably benign Het
Hydin T C 8: 111,259,846 (GRCm39) I2606T possibly damaging Het
Ino80d A G 1: 63,097,999 (GRCm39) S632P probably damaging Het
Kcnn2 G A 18: 45,692,463 (GRCm39) R13H probably benign Het
Klb A T 5: 65,536,667 (GRCm39) K666* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kpna7 T C 5: 144,930,766 (GRCm39) I360V possibly damaging Het
Lmbrd2 A G 15: 9,182,657 (GRCm39) K576E possibly damaging Het
Lrp2 T A 2: 69,310,497 (GRCm39) Y2692F probably benign Het
Meis2 T A 2: 115,889,145 (GRCm39) E202D probably benign Het
Mgat4c A T 10: 102,224,826 (GRCm39) T347S probably damaging Het
Mmp12 G A 9: 7,347,501 (GRCm39) C26Y possibly damaging Het
Mrpl24 G A 3: 87,830,292 (GRCm39) R145Q probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Myo1g T A 11: 6,457,000 (GRCm39) Y942F probably benign Het
Myrf T C 19: 10,200,911 (GRCm39) K52R probably null Het
Ncf2 A T 1: 152,697,269 (GRCm39) silent Het
Nherf2 A T 17: 24,863,851 (GRCm39) M8K probably benign Het
Or51f1e T C 7: 102,747,161 (GRCm39) F71S probably damaging Het
Otx1 T C 11: 21,948,594 (GRCm39) probably benign Het
Pcnx1 T A 12: 81,965,429 (GRCm39) V532D possibly damaging Het
Pik3r5 T C 11: 68,383,096 (GRCm39) L305P probably damaging Het
Pira13 T A 7: 3,825,898 (GRCm39) R324* probably null Het
Polr3a A T 14: 24,500,766 (GRCm39) C1341S probably benign Het
Ppp1r3a T C 6: 14,718,983 (GRCm39) T644A probably benign Het
Pramel22 A G 4: 143,382,109 (GRCm39) S196P possibly damaging Het
Ptbp1 A G 10: 79,695,766 (GRCm39) D289G probably benign Het
Pwp2 A G 10: 78,007,952 (GRCm39) F868L probably benign Het
Rgs8 A G 1: 153,568,574 (GRCm39) E153G probably damaging Het
Rhbdf2 G A 11: 116,493,180 (GRCm39) probably benign Het
Sbf1 T C 15: 89,192,271 (GRCm39) H78R probably damaging Het
Sdr16c6 C T 4: 4,062,728 (GRCm39) A197T possibly damaging Het
Slc36a3 A T 11: 55,016,547 (GRCm39) Y349* probably null Het
Slc38a9 T C 13: 112,831,856 (GRCm39) L202P possibly damaging Het
Slc40a1 A T 1: 45,951,509 (GRCm39) M216K probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Srp54b A G 12: 55,299,614 (GRCm39) N315S probably benign Het
Strc A G 2: 121,196,358 (GRCm39) F1557L probably benign Het
Susd3 C A 13: 49,392,202 (GRCm39) probably benign Het
Usp54 G A 14: 20,600,351 (GRCm39) T1462I probably benign Het
Vmn1r11 T A 6: 57,114,787 (GRCm39) N150K probably damaging Het
Vwa8 C T 14: 79,231,958 (GRCm39) H606Y probably benign Het
Zmym6 A G 4: 126,994,463 (GRCm39) I206V possibly damaging Het
Other mutations in Mycbpap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01313:Mycbpap APN 11 94,400,145 (GRCm39) splice site probably null
IGL01372:Mycbpap APN 11 94,397,282 (GRCm39) missense possibly damaging 0.56
IGL01627:Mycbpap APN 11 94,405,430 (GRCm39) missense probably damaging 0.98
IGL01645:Mycbpap APN 11 94,394,293 (GRCm39) splice site probably null
IGL01712:Mycbpap APN 11 94,403,481 (GRCm39) missense possibly damaging 0.50
IGL02209:Mycbpap APN 11 94,400,708 (GRCm39) splice site probably benign
IGL02377:Mycbpap APN 11 94,394,076 (GRCm39) missense probably damaging 1.00
IGL03088:Mycbpap APN 11 94,404,769 (GRCm39) critical splice acceptor site probably null
IGL03412:Mycbpap APN 11 94,398,927 (GRCm39) splice site probably null
IGL03046:Mycbpap UTSW 11 94,396,543 (GRCm39) missense possibly damaging 0.84
P0008:Mycbpap UTSW 11 94,394,893 (GRCm39) missense probably damaging 1.00
R0053:Mycbpap UTSW 11 94,402,562 (GRCm39) missense probably damaging 1.00
R0053:Mycbpap UTSW 11 94,402,562 (GRCm39) missense probably damaging 1.00
R0437:Mycbpap UTSW 11 94,404,338 (GRCm39) splice site probably benign
R0706:Mycbpap UTSW 11 94,404,612 (GRCm39) nonsense probably null
R0791:Mycbpap UTSW 11 94,402,449 (GRCm39) critical splice donor site probably null
R1496:Mycbpap UTSW 11 94,396,387 (GRCm39) missense probably benign 0.11
R1522:Mycbpap UTSW 11 94,402,449 (GRCm39) critical splice donor site probably null
R1698:Mycbpap UTSW 11 94,398,969 (GRCm39) nonsense probably null
R1796:Mycbpap UTSW 11 94,398,377 (GRCm39) missense probably damaging 1.00
R1906:Mycbpap UTSW 11 94,396,447 (GRCm39) missense probably benign 0.24
R4115:Mycbpap UTSW 11 94,403,051 (GRCm39) splice site probably null
R4930:Mycbpap UTSW 11 94,393,983 (GRCm39) missense probably benign 0.20
R4965:Mycbpap UTSW 11 94,395,764 (GRCm39) missense probably damaging 1.00
R5323:Mycbpap UTSW 11 94,394,330 (GRCm39) missense probably benign 0.00
R5326:Mycbpap UTSW 11 94,398,572 (GRCm39) splice site probably null
R5542:Mycbpap UTSW 11 94,398,572 (GRCm39) splice site probably null
R5625:Mycbpap UTSW 11 94,396,519 (GRCm39) missense probably damaging 0.99
R5996:Mycbpap UTSW 11 94,404,420 (GRCm39) missense probably benign
R6065:Mycbpap UTSW 11 94,399,013 (GRCm39) splice site probably null
R6192:Mycbpap UTSW 11 94,398,557 (GRCm39) missense probably damaging 1.00
R7027:Mycbpap UTSW 11 94,405,440 (GRCm39) missense probably damaging 1.00
R7329:Mycbpap UTSW 11 94,400,073 (GRCm39) missense probably damaging 1.00
R7513:Mycbpap UTSW 11 94,394,382 (GRCm39) missense probably damaging 1.00
R8485:Mycbpap UTSW 11 94,405,359 (GRCm39) missense probably benign 0.01
R8485:Mycbpap UTSW 11 94,402,534 (GRCm39) missense probably damaging 0.96
R8985:Mycbpap UTSW 11 94,404,722 (GRCm39) missense probably benign 0.42
R9116:Mycbpap UTSW 11 94,398,032 (GRCm39) intron probably benign
R9173:Mycbpap UTSW 11 94,397,209 (GRCm39) missense probably damaging 1.00
R9413:Mycbpap UTSW 11 94,392,321 (GRCm39) missense probably damaging 1.00
R9428:Mycbpap UTSW 11 94,393,995 (GRCm39) missense probably damaging 1.00
Z1177:Mycbpap UTSW 11 94,400,680 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTAAGAGTCACAGGGTCAC -3'
(R):5'- GCATTACCAGCATCAAGTGG -3'

Sequencing Primer
(F):5'- GGTCACCTGTCTGAAGTCC -3'
(R):5'- AGCATCAAGTGGTGCAAAAC -3'
Posted On 2016-12-20